Costa EM - Search Results

1

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Sproll P, Eid W, Gomes CR, Mendonca BB, Gomes NL, Costa EM, Biason-Lauber A. Sproll P, et al. Among authors: costa em. Mol Genet Genomic Med. 2018 Sep;6(5):785-795. doi: 10.1002/mgg3.445. Epub 2018 Jul 11. Mol Genet Genomic Med. 2018. PMID: 29998616 Free PMC article.

2

46,XY disorders of sex development (DSD).

Mendonca BB, Domenice S, Arnhold IJ, Costa EM. Mendonca BB, et al. Among authors: costa em. Clin Endocrinol (Oxf). 2009 Feb;70(2):173-87. doi: 10.1111/j.1365-2265.2008.03392.x. Clin Endocrinol (Oxf). 2009. PMID: 18811725 Review.

3

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S. Mendonca BB, et al. Among authors: costa em. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):79-85. doi: 10.1016/j.jsbmb.2016.05.002. Epub 2016 May 6. J Steroid Biochem Mol Biol. 2017. PMID: 27163392 Review.

4

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB. Gomes NL, et al. Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28. Clin Genet. 2019. PMID: 30294972 Free article.

5

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

Chamberlin A, Huether R, Machado AZ, Groden M, Liu HM, Upadhyay K, O V, Gomes NL, Lerario AM, Nishi MY, Costa EMF, Mendonca B, Domenice S, Velasco J, Loke J, Ostrer H. Chamberlin A, et al. Hum Mol Genet. 2019 May 15;28(10):1620-1628. doi: 10.1093/hmg/ddz002. Hum Mol Genet. 2019. PMID: 30608580

6

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB. Wisniewski AB, et al. Endocr Rev. 2019 Dec 1;40(6):1547-1572. doi: 10.1210/er.2019-00049. Endocr Rev. 2019. PMID: 31365064 Review.

7

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.

Ferrari MTM, Watanabe A, da Silva TE, Gomes NL, Batista RL, Nishi MY, de Paula LCP, Costa EC, Costa EMF, Cukier P, Onuchic LF, Mendonca BB, Domenice S. Ferrari MTM, et al. Sex Dev. 2022;16(1):46-54. doi: 10.1159/000517373. Epub 2021 Aug 13. Sex Dev. 2022. PMID: 34392242

8

46,XY DSD due to impaired androgen production.

Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S. Mendonca BB, et al. Among authors: costa em. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20541150 Review.

9

DSD due to 5α-reductase 2 deficiency - from diagnosis to long term outcome.

Costa EM, Domenice S, Sircili MH, Inacio M, Mendonca BB. Costa EM, et al. Semin Reprod Med. 2012 Oct;30(5):427-31. doi: 10.1055/s-0032-1324727. Epub 2012 Oct 8. Semin Reprod Med. 2012. PMID: 23044880 Review.

10

Quality of life of patients with 46,XX and 46,XY disorders of sex development.

Amaral RC, Inacio M, Brito VN, Bachega TA, Domenice S, Arnhold IJ, Madureira G, Gomes L, Costa EM, Mendonca BB. Amaral RC, et al. Among authors: costa em. Clin Endocrinol (Oxf). 2015 Feb;82(2):159-64. doi: 10.1111/cen.12561. Epub 2014 Aug 14. Clin Endocrinol (Oxf). 2015. PMID: 25040878 Review.

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